Literature DB >> 28484880

What is new in CDG?

Jaak Jaeken1, Romain Péanne2.   

Abstract

Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2. Besides, it discusses novel phenotypes of known CDG (DHDDS-CDG, ALG9-CDG, EXT2-CDG, PIGA-CDG, PIGN-CDG), the elucidation of putative glycosyltransferase disorders as O-mannosylglycan synthesis disorders (TMEM5-CDG, ISPD-CDG, FKTN-CDG, FKRP-CDG), a novel CDG mechanism, advances in diagnosis, pathogenesis, treatment and finally an updated list of the 104 known CDG.

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Year:  2017        PMID： 28484880     DOI： 10.1007/s10545-017-0050-6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  80 in total

Review 1.  Gain-of-glycosylation mutations.

Authors:  Guillaume Vogt; Benoît Vogt; Nadia Chuzhanova; Karin Julenius; David N Cooper; Jean-Laurent Casanova
Journal:  Curr Opin Genet Dev       Date:  2007-04-30       Impact factor: 5.578

Review 2.  Neurological aspects of human glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Annu Rev Neurosci       Date:  2015-04-02       Impact factor: 12.449

3.  Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

Authors:  Eon Joo Park; Kariona A Grabińska; Ziqiang Guan; Viktor Stránecký; Hana Hartmannová; Kateřina Hodaňová; Veronika Barešová; Jana Sovová; Levente Jozsef; Nina Ondrušková; Hana Hansíková; Tomáš Honzík; Jiří Zeman; Helena Hůlková; Rong Wen; Stanislav Kmoch; William C Sessa
Journal:  Cell Metab       Date:  2014-07-24       Impact factor: 27.287

4.  Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

Authors:  Cynthia Silveira; Gabriela F Leal; Denise P Cavalcanti
Journal:  Am J Med Genet A       Date:  2016-08-02       Impact factor: 2.802

5.  Cohen syndrome is associated with major glycosylation defects.

Authors:  Laurence Duplomb; Sandrine Duvet; Damien Picot; Gaëtan Jego; Salima El Chehadeh-Djebbar; Nathalie Marle; Nadège Gigot; Bernard Aral; Virginie Carmignac; Julien Thevenon; Estelle Lopez; Jean-Baptiste Rivière; André Klein; Christophe Philippe; Nathalie Droin; Edward Blair; François Girodon; Jean Donadieu; Christine Bellanné-Chantelot; Laurent Delva; Jean-Claude Michalski; Eric Solary; Laurence Faivre; François Foulquier; Christel Thauvin-Robinet
Journal:  Hum Mol Genet       Date:  2013-12-13       Impact factor: 6.150

6.  A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Authors:  Wenyue Zhang; Philip M James; Bobby G Ng; Xueli Li; Baoyun Xia; Jiang Rong; Ghazia Asif; Kimiyo Raymond; Melanie A Jones; Madhuri Hegde; Tongzhong Ju; Richard D Cummings; Katie Clarkson; Tim Wood; Cornelius F Boerkoel; Hudson H Freeze; Miao He
Journal:  Clin Chem       Date:  2015-10-01       Impact factor: 8.327

7.  Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Authors:  Fulya Taylan; Alice Costantini; Nicole Coles; Minna Pekkinen; Elise Héon; Zeynep Şıklar; Merih Berberoğlu; Anders Kämpe; Ertuğrul Kıykım; Giedre Grigelioniene; Beyhan Tüysüz; Outi Mäkitie
Journal:  J Bone Miner Res       Date:  2016-04-04       Impact factor: 6.741

8.  Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Authors:  Periklis Makrythanasis; Mitsuhiro Kato; Maha S Zaki; Hirotomo Saitsu; Kazuyuki Nakamura; Federico A Santoni; Satoko Miyatake; Mitsuko Nakashima; Mahmoud Y Issa; Michel Guipponi; Audrey Letourneau; Clare V Logan; Nicola Roberts; David A Parry; Colin A Johnson; Naomichi Matsumoto; Hanan Hamamy; Eamonn Sheridan; Taroh Kinoshita; Stylianos E Antonarakis; Yoshiko Murakami
Journal:  Am J Hum Genet       Date:  2016-03-17       Impact factor: 11.025

9.  Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Authors:  Kym M Boycott; Chandree L Beaulieu; Kristin D Kernohan; Ola H Gebril; Aziz Mhanni; Albert E Chudley; David Redl; Wen Qin; Sarah Hampson; Sébastien Küry; Martine Tetreault; Erik G Puffenberger; James N Scott; Stéphane Bezieau; André Reis; Steffen Uebe; Johannes Schumacher; Robert A Hegele; D Ross McLeod; Marina Gálvez-Peralta; Jacek Majewski; Vincent T Ramaekers; Daniel W Nebert; A Micheil Innes; Jillian S Parboosingh; Rami Abou Jamra
Journal:  Am J Hum Genet       Date:  2015-12-03       Impact factor: 11.025

Review 10.  Human glycosylation disorders.

Authors:  Donna Krasnewich
Journal:  Cancer Biomark       Date:  2014-01-01       Impact factor: 4.388
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  50 in total

Review 1.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982

2.  Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Authors:  Bobby G Ng; Gege Xu; Nandini Chandy; Joan Steyermark; Deepali N Shinde; Kelly Radtke; Kimiyo Raymond; Carlito B Lebrilla; Ali AlAsmari; Sharon F Suchy; Zöe Powis; Eissa Ali Faqeih; Susan A Berry; David F Kronn; Hudson H Freeze
Journal:  Am J Hum Genet       Date:  2018-01-04       Impact factor: 11.025

Review 3.  Laboratory diagnostic approaches in metabolic disorders.

Authors:  Ruben Bonilla Guerrero; Denise Salazar; Pranoot Tanpaiboon
Journal:  Ann Transl Med       Date:  2018-12

Review 4.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

5.  Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases.

Authors:  Hiren J Joshi; Lars Hansen; Yoshiki Narimatsu; Hudson H Freeze; Bernard Henrissat; Eric Bennett; Hans H Wandall; Henrik Clausen; Katrine T Schjoldager
Journal:  Glycobiology       Date:  2018-05-01       Impact factor: 4.313

6.  Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: A case report.

Authors:  Shaowei Yin; Liying Gong; Hao Qiu; Yan Zhao; Yan Zhang; Caixia Liu; Hongkun Jiang; Yan Mao; Ling-Yin Kong; Bo Liang; Yuan Lv
Journal:  Exp Ther Med       Date:  2019-07-30       Impact factor: 2.447

7.  Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.

Authors:  Eline Blommaert; Romain Péanne; Natalia A Cherepanova; Daisy Rymen; Frederik Staels; Jaak Jaeken; Valérie Race; Liesbeth Keldermans; Erika Souche; Anniek Corveleyn; Rebecca Sparkes; Kaustuv Bhattacharya; Christine Devalck; Rik Schrijvers; François Foulquier; Reid Gilmore; Gert Matthijs
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-29       Impact factor: 11.205

8.  Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.

Authors:  Jie Chen; Xueli Li; Andrew Edmondson; Gail Ditewig Meyers; Kosuke Izumi; Amanda M Ackermann; Eva Morava; Can Ficicioglu; Michael J Bennett; Miao He
Journal:  Clin Chem       Date:  2019-02-15       Impact factor: 8.327

Review 9.  Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Authors:  Yoon-Myung Kim; Go Hun Seo; Euiseok Jung; Ja-Hyun Jang; Sook Za Kim; Beom Hee Lee
Journal:  J Hum Genet       Date:  2017-12-13       Impact factor: 3.172

10.  Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Authors:  Monica Zilmer; Andrew C Edmondson; Sumeet A Khetarpal; Viola Alesi; Maha S Zaki; Kevin Rostasy; Camilla G Madsen; Francesca R Lepri; Lorenzo Sinibaldi; Raffaella Cusmai; Antonio Novelli; Mahmoud Y Issa; Christina D Fenger; Rami Abou Jamra; Heiko Reutter; Silvana Briuglia; Emanuele Agolini; Lars Hansen; Ulla E Petäjä-Repo; John Hintze; Kimiyo M Raymond; Kristen Liedtke; Valentina Stanley; Damir Musaev; Joseph G Gleeson; Cecilia Vitali; W Timothy O'Brien; Elena Gardella; Guido Rubboli; Daniel J Rader; Katrine T Schjoldager; Rikke S Møller
Journal:  Brain       Date:  2020-04-01       Impact factor: 13.501
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